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Modeling Spinal Muscular Atrophy in Drosophila

Figure 2

Smn mutations cause lethality.

(A) Schematic representation of the SMN protein and location of mutations corresponding to the Smn alleles used in this study. The conserved Tudor domain and YG box are indicated. Insertion sites of the transposon induced Smnf05960 and Smnf01109 alleles are denoted by triangles. Regions of the Smn transcript targeted by RNA interference (RNAi) are illustrated as lines under the SMN protein schematic. (B) Loss of Smn function elicits lethality. For individuals of given phenotypes, the percentages of surviving individuals are shown and are normalized to wild-type. Smn73Ao and Smnf05960 homozygotes die during late 2nd/early 3rd larval and pupal stages, though some Smnf05960 escapers are detected. In contrast, 67% of the Smnf01109 homozygotes survive to adulthood. Smnf01109/Smn73Ao and Smnf05960/Smn73Ao trans-heterozygous combinations are also viable. In addition, a small deficiency uncovering the entire Smn transcript was generated (Df(3L)SmnX7). We crossed all three Smn alleles to Df(3L)SmnX7 and found that both Smn73Ao/Df(3L)SmnX7 and Smnf05960/Df(3L)SmnX7 heterozygotes die between the 2nd and 3rd instar larval stages, while ∼60% of Smnf01109/Df(3L)SmnX7 are viable. Therefore, using lethality as a criterion, all three alleles behave as loss-of-function mutations with Smnf01109 displaying the weakest phenotype of the three. No obvious maternal or paternal effect is observed for the different alleles. m: maternal contribution, p: paternal contribution. WT is wild-type (Canton-S). At least 100 individuals were examined for each genotype.

Figure 2

doi: https://doi.org/10.1371/journal.pone.0003209.g002